Chromosome News and Research

Latest Chromosome News and Research

Osteoarthritis susceptibility: eight potential genes discovered

The largest genome-wide association study (GWAS) of osteoarthritis to date, published Online First in The Lancet, has uncovered eight new genetic variants or loci that appear to increase susceptibility to the most common form of arthritis, which affects about 40% of the world population older than 70 years. These findings bring the total number of osteoarthritis susceptibility genes isolated in European populations to 11.

3 Jul 2012

Researchers show how aggressive form of multiple myeloma resists chemotherapy

Researchers at Washington University School of Medicine in St. Louis have shown how an aggressive form of multiple myeloma resists chemotherapy.

3 Jul 2012

Genetic mutation that creates Ewing's sarcoma leads to high levels of protein EYA3

Ewing's sarcoma is a bone cancer commonly diagnosed in about 250 U.S. teenagers per year. If early chemotherapy is effective, improvement can be durable. But for children and teens who respond poorly to a first attempt at chemotherapy or if the disease spreads, long-term survival can be less than 10 percent.

30 Jun 2012

Researchers discover new gene mutations associated with megalencephaly

A research team led by Seattle Children's Research Institute has discovered new gene mutations associated with markedly enlarged brain size, or megalencephaly.

30 Jun 2012

Study suggests adverse role for BclI polymorphism in obesity and insulin resistance

A large study in people at risk of diabetes has found a direct association between the presence of a small genetic alteration in a hormone receptor and increased body fat and insulin resistance. The results, to be presented Tuesday at The Endocrine Society's 94th Annual Meeting in Houston, suggest an adverse role for a previously described genetic variant, the BclI polymorphism.

28 Jun 2012

Study reveals decline in number of babies born with birth defects across Europe

The number of babies born with birth defects (major congenital anomalies) across Europe has fallen over the decade (2000-2009), University of Ulster research has revealed.

23 Jun 2012

Oxytocin hormone plays an important role in Williams syndrome

The hormone oxytocin - often referred to as the "trust" hormone or "love hormone" for its role in stimulating emotional responses - plays an important role in Williams syndrome (WS), according to a study published June 12, 2012, in PLoS One.

23 Jun 2012

Scientists identify cause of double-cortex syndrome

Researchers at McGill University have discovered the cause of an inherited form of epilepsy. The disease, known as double-cortex syndrome, primarily affects females and arises from mutations on a gene located on the X chromosome. Drs. Susanne Bechstedt and Gary Brouhard of the Department of Biology have used a highly advanced microscope to discover how these mutations cause a malformation of the human brain.

22 Jun 2012

Biochemists map structure of key protein-RNA complex required for assembly of telomerase

UCLA biochemists have mapped the structure of a key protein-RNA complex that is required for the assembly of telomerase, an enzyme important in both cancer and aging.

20 Jun 2012

Six novel genetic associations for early onset male pattern baldness

Using data from its unique online research platform, 23andMe, a leading personal genetics company, has contributed to the finding of six novel genetic associations for early onset male pattern baldness (androgenetic alopecia) in a genome-wide association study now published online in the journal PLoS Genetics.

20 Jun 2012

New approach to decipher roles of genes associated with autism

Fish cannot display symptoms of autism, schizophrenia or other human brain disorders. However, a team of MIT biologists has shown that zebrafish can be a useful tool for studying the genes that contribute to such disorders.

20 Jun 2012

Zebrafish provides insight into human melanoma

A transparent member of the minnow family is providing researchers at Weill Cornell Medical College in New York City with insight into human melanoma - a form of skin cancer - that may lead to new or repurposed drug treatments, for skin and other cancers.

19 Jun 2012

Updated data from ARIAD’s ponatinib pivotal trial on CML or Ph+ ALL

ARIAD Pharmaceuticals, Inc. today announced updated clinical data from the pivotal PACE trial of its investigational pan-BCR-ABL inhibitor, ponatinib, in patients with chronic myeloid leukaemia (CML) or Philadelphia-positive acute lymphoblastic leukaemia (Ph+ ALL), who are resistant or intolerant to dasatinib or nilotinib or who have the T315I mutation.

18 Jun 2012

Otsuka, Bristol-Myers Squibb announce six-year data from SPRYCEL Phase 3 trial on CP-CML

Bristol-Myers Squibb Company and Otsuka Pharmaceutical Europe Ltd., today announced six-year follow-up results from a Phase 3 randomised, open-label, dose-optimisation study of SPRYCEL (dasatinib) in Philadelphia chromosome-positive (Ph+) chronic-phase chronic myeloid leukaemia (CP-CML) adult patients resistant or intolerant to Glivec (imatinib).

16 Jun 2012

First U.S. population prevalence study of mutations in the gene that causes fragile X

The first U.S. population prevalence study of mutations in the gene that causes fragile X syndrome, the most common inherited form of intellectual disability, suggests the mutation in the gene - and its associated health risks - may be more common than previously believed.

15 Jun 2012

Study: Quirky fruit fly gene can help develop new weapons against cancer

Loyola University Chicago researchers are taking advantage of a quirk in the evolution of fruit fly genes to help develop new weapons against cancer.

15 Jun 2012

Study finds gender pay disparity among physicians

Male doctors make more money than their female counterparts, even when factoring in medical specialty, title, work hours, productivity and a host of other factors, according to a comprehensive new analysis from researchers at the University of Michigan Health System and Duke University.

13 Jun 2012